Associated Papers
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Sacchetto C et al.
Molecular Medicine (cambridge, Mass.), 2021
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K et al.
Molecular Genetics and Metabolism, 2008
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
Climent C et al.
Human Mutation, 2002
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